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Satoko Miyatake

Showing results (1-10 of 212) with videos related to

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Nature Reviews. Neurology|November 5, 2014
Genetics: Clinical exome sequencing in neurology practiceSatoko Miyatake, Naomichi Matsumoto
Brain and Nerve = Shinkei Kenkyu No Shinpo|November 7, 2022
[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]Satoko Miyatake, Naomichi Matsumoto
Brain & Development|August 6, 2018
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in JapanMiyuki Hoshi, Eriko Koshimizu, Satoko Miyatake, et al.
Rinsho Shinkeigaku = Clinical Neurology|October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
European Heart Journal. Case Reports|February 23, 2026
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case reportMai Aida, Junichi Ozawa, Yuya Takahashi, et al.
World Neurosurgery|April 23, 2016
Vein of Galen Aneurysmal Malformation in Monozygotic TwinMasaki Komiyama, Satoko Miyatake, Aiko Terada, et al.
No Shinkei Geka. Neurological Surgery|June 24, 2020
[Ruptured Aneurysm of an Aplastic or Twig-like Middle Cerebral Artery with Ring Finger Protein 213 Mutation:A Case Report]Ryutaro Fukuyama, Kouji Yamamura, Hidetoshi Murata, et al.
Journal of Human Genetics|December 19, 2018
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseasesTakeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, et al.
Human Genome Variation|April 16, 2016
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)Hiroyuki Yahikozawa, Kunihiro Yoshida, Shunichi Sato, et al.
Molecular Syndromology|November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case ReportMasashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
Pageof 22

Showing results (1-10 of 212) with videos related to

Sort By:
Pageof 22
Nature Reviews. Neurology|November 5, 2014
Genetics: Clinical exome sequencing in neurology practiceSatoko Miyatake, Naomichi Matsumoto
Brain and Nerve = Shinkei Kenkyu No Shinpo|November 7, 2022
[RFC1 Gene: Function and Intronic Repeat Expansion Causing Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome]Satoko Miyatake, Naomichi Matsumoto
Brain & Development|August 6, 2018
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in JapanMiyuki Hoshi, Eriko Koshimizu, Satoko Miyatake, et al.
Rinsho Shinkeigaku = Clinical Neurology|October 26, 2022
[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene]Kenju Hara, Haruka Ouchi, Kohei Hamanaka, et al.
European Heart Journal. Case Reports|February 23, 2026
Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case reportMai Aida, Junichi Ozawa, Yuya Takahashi, et al.
World Neurosurgery|April 23, 2016
Vein of Galen Aneurysmal Malformation in Monozygotic TwinMasaki Komiyama, Satoko Miyatake, Aiko Terada, et al.
No Shinkei Geka. Neurological Surgery|June 24, 2020
[Ruptured Aneurysm of an Aplastic or Twig-like Middle Cerebral Artery with Ring Finger Protein 213 Mutation:A Case Report]Ryutaro Fukuyama, Kouji Yamamura, Hidetoshi Murata, et al.
Journal of Human Genetics|December 19, 2018
Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseasesTakeshi Mizuguchi, Tomoko Toyota, Hiroaki Adachi, et al.
Human Genome Variation|April 16, 2016
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)Hiroyuki Yahikozawa, Kunihiro Yoshida, Shunichi Sato, et al.
Molecular Syndromology|November 23, 2020
Clonazepam as an Effective Treatment for Epilepsy in a Female Patient with <i>NEXMIF</i> Mutation: Case ReportMasashi Ogasawara, Eiji Nakagawa, Eri Takeshita, et al.
Pageof 22